Congenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early-onset muscle disease, caused by disease-associated variants in the laminin-α2 (LAMA2) gene. MDC1A usually presents as a severe neonatal hypotonia and failure to thrive. Muscle weakness compromises normal motor development, leading to the inability to sit unsupported or to walk independently. The phenotype associated with LAMA2 defects has been expanded to include milder and atypical cases, being now collectively known as LAMA2-related muscular dystrophies (LAMA2-MD). Through an international multicenter collaborative effort, 61 new LAMA2 disease-associated variants were identified in 86 patients, representing the largest number of patients and new disease-causing variants in a single report. The collaborative variant collection was supported by the LOVD-powered LAMA2 gene variant database (https://www.LOVD.nl/LAMA2), updated as part of this work. As of December 2017, the database contains 486 unique LAMA2 variants (309 disease-associated), obtained from direct submissions and literature reports. Database content was systematically reviewed and further insights concerning LAMA2-MD are presented. We focus on the impact of missense changes, especially the c.2461A > C (p.Thr821Pro) variant and its association with late-onset LAMA2-MD. Finally, we report diagnostically challenging cases, highlighting the relevance of modern genetic analysis in the characterization of clinically heterogeneous muscle diseases.

Exhaustive or unaccustomed intense exercise can cause exercise-induced muscle damage (EIMD) and its undesirable consequences may decrease the ability to exercise and to adhere to a training programme. This review briefly summarises the muscle damage process, focusing predominantly on oxidative stress and inflammation as contributing factors, and describes how nutrition may be positively used to recover from EIMD. The combined intake of carbohydrates and proteins and the use of antioxidants and/or anti-inflammatory nutrients within physiological ranges are interventions that may assist the recovery process. Although the works studying food instead of nutritional supplements are very scarce, their results seem to indicate that food might be a favourable option as a recovery strategy. To date, the only tested foods were milk, cherries, blueberries and pomegranate with promising results. Other potential solutions are foods rich in protein, carbohydrates, antioxidants and/or anti-inflammatory nutrients.

Contemporary elite soccer features increased physical demands during match-play, as well as a larger number of matches per season. Now more than ever, aspects related to performance optimization are highly regarded by both players and soccer coaches. Here, nutrition takes a special role as most elite teams try to provide an adequate diet to guarantee maximum performance while ensuring a faster recovery from matches and training exertions. It is currently known that manipulation and periodization of macronutrients, as well as sound hydration practices, have the potential to interfere with training adaptation and recovery. A careful monitoring of micronutrient status is also relevant to prevent undue fatigue and immune impairment secondary to a deficiency status. Furthermore, the sensible use of evidence-based dietary supplements may also play a role in soccer performance optimization. In this sense, several nutritional recommendations have been issued. This detailed and comprehensive review addresses the most relevant and up-to-date nutritional recommendations for elite soccer players, covering from macro and micronutrients to hydration and selected supplements in different contexts (daily requirements, pre, peri and post training/match and competition).

In this study, we determined the prevalence of nutritional supplements (NS) usage, the type of supplements used, the reasons for usage, and the source of nutritional advice among Portuguese athletes. Two hundred ninety-two athletes (68 % male, 12 - 37 years old) from 13 national sports federations completed a questionnaire that sought information on socio-demographics, sports data, and NS usage. Most athletes (66 %) consumed NS, with a median consumption of 4 supplements per athlete. The most popular supplements included multivitamins/minerals (67 %), sport drinks (62 %), and magnesium (53 %). Significant differences for the type of NS consumed were found between gender and age groups and the number of weekly training hours. Most athletes used NS to accelerate recovery (63 %), improve sports performance (62 %), and have more energy/reduce fatigue (60 %). Athletes sought advice on supplementation mainly from physicians (56 %) and coaches (46 %). Age and gender were found to influence reasons for use and the source of information. Reasons for NS usage were supported scientifically in some cases (e. g., muscle gain upon protein supplementation), but others did not have a scientific basis (e. g., use of glutamine and magnesium). Given the high percentage of NS users, there is an urgent need to provide athletes with education and access to scientific and unbiased information, so that athletes can make assertive and rational choices about the utilization of these products.

on behalf of working group 3 in the EVBRES COST Action (https://evbres.eu)